Variant report

Variant	nsv974287
Chromosome Location	chr14:63210415-63211979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386778214	chr14:63210427-63210428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10047858	chr14:63210429-63210430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551744035	chr14:63210443-63210444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188968051	chr14:63210468-63210469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193135787	chr14:63210491-63210492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576545788	chr14:63210496-63210497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145139459	chr14:63210497-63210498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533235529	chr14:63210503-63210504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146477549	chr14:63210528-63210529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566778122	chr14:63210557-63210558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370261759	chr14:63210558-63210559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201788148	chr14:63210641-63210642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549199433	chr14:63210672-63210673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535401091	chr14:63210673-63210674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184238640	chr14:63210776-63210777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188949750	chr14:63210817-63210818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117113172	chr14:63210888-63210889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28491761	chr14:63210907-63210908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577593930	chr14:63210915-63210916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76406032	chr14:63210920-63210921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181052349	chr14:63210937-63210938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs8017931	chr14:63210951-63210952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs542811046	chr14:63211016-63211017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183950449	chr14:63211042-63211043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560790511	chr14:63211054-63211055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8022441	chr14:63211097-63211098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189772663	chr14:63211141-63211142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141138788	chr14:63211277-63211278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10129416	chr14:63211280-63211281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547781458	chr14:63211330-63211331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560439497	chr14:63211343-63211344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8022524	chr14:63211350-63211351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs532028452	chr14:63211391-63211392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180790928	chr14:63211392-63211393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537923354	chr14:63211400-63211401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370594354	chr14:63211487-63211488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551161290	chr14:63211570-63211571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540930547	chr14:63211581-63211582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186079806	chr14:63211594-63211595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533513238	chr14:63211597-63211598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553776519	chr14:63211643-63211644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539030403	chr14:63211724-63211725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192158620	chr14:63211749-63211750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181996736	chr14:63211750-63211751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185915453	chr14:63211878-63211879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144862423	chr14:63211940-63211941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63202800-63212000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63207400-63216400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:63209000-63211600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:63209400-63210800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:63210200-63210800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:63210400-63210600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:63210400-63210600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:63210400-63210600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:63210400-63211400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:63210400-63211400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:63210600-63211800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:63211400-63212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:63211600-63218000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:63211800-63212600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:63211800-63213000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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